Seroatlas · Human Serome Atlas

ERC1

ELKS/Rab6-interacting/CAST family member 1

Also known as: CAST2, ELKS, KIAA1081, MGC12974, RAB6IP2, RB6I2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8IUD2
Gene
ERC1
Ensembl
ENSG00000082805
Chromosome
12
Canonical length
1116 aa
Protein class
Cancer-related genes, Disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Plasma membrane,Centrosome

OverviewNCBI Gene

The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

1116 residues, UniProt reviewed canonical sequence.

>Q8IUD2|ERC1
     1  MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
    61  SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
   121  DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
   181  SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
   241  DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
   301  TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
   361  REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
   421  EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
   481  ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
   541  KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
   601  VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
   661  VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
   721  HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
   781  ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
   841  ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
   901  SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
   961  LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
  1021  SKLKLYIGHL TTLCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QLQDELEKGE
  1081  RDNAELQEFA NAILQQIADH CPDILEQVVN ALEESS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
18 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 18 nTPM
  • blood vessel: 15 nTPM
  • parathyroid gland: 14 nTPM
  • urinary bladder: 13 nTPM
  • smooth muscle: 12 nTPM
  • heart muscle: 12 nTPM

Single-cell type

  • thyrotrophs: 1,728 nCPM
  • lactotrophs: 1,228 nCPM
  • somatotrophs: 1,113 nCPM
  • retinal horizontal cells: 1,074 nCPM
  • gonadotrophs: 845 nCPM
  • brain excitatory neurons: 803 nCPM

Immune cell

  • memory B-cell: 8.9 nTPM
  • non-classical monocyte: 5.5 nTPM
  • basophil: 3.8 nTPM
  • naive B-cell: 3.4 nTPM
  • naive CD4 T-cell: 2.4 nTPM
  • eosinophil: 2.3 nTPM

Brain region

  • cerebellum: 65 nTPM
  • hypothalamus: 42 nTPM
  • thalamus: 40 nTPM
  • hippocampal formation: 38 nTPM
  • basal ganglia: 37 nTPM
  • midbrain: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERC1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 178 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.54
gnomAD pLI
0
gnomAD missense Z
1.45
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ERC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ERC1 as an antibody target. Whether an autoantibody or antibody against ERC1 could matter depends on whether native ERC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERC1 is annotated at the cell surface, where native ERC1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ERC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ERC1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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